Sperm flagellar protein 2

Definition:

Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation (By similarity).

References:

[1]. Wensheng Liu, et al. Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). J Med Genet. 2019 Oct;56(10):678-684. [Content Brief]

[2]. Chunyu Liu, et al. Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. J Med Genet. 2020 Jan;57(1):31-37. [Content Brief]

[3]. Yanwei Sha, et al. Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. Clin Genet. 2019 Nov;96(5):385-393. [Content Brief]

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